title: The FG syndrome from a pathological perspective.
abstract: We report on a case of FG syndrome in an almost 6-year-old boy, diagnosed post-mortem. The description of the intellectual and behavior phenotype provided by the mother, together with the evidence gathered at autopsy, were sufficient to reach a clinical diagnosis. The mother had mild manifestations, including a symptomatic tethered cord, which established her as a carrier of the putative mutation causing the syndrome in the son. The propositus' phenotype did not suggest involvement of the MED12 gene.
authors.affiliation: Istituto di Ginecologia e Ostetricia, Università Cattolica del S. Cuore, Rome, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Neri
authors.forename: Karen
authors.initials: K
authors.lastname: Moser
authors.forename: Theodore J
authors.initials: TJ
authors.lastname: Pysher
authors.forename: David R
authors.initials: DR
authors.lastname: Boettger
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D055673:Acrocallosal Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D061085:Agenesis of Corpus Callosum; D001006:Anus, Imperforate / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001344:Autopsy; D002675:Child, Preschool; D003248:Constipation / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D056892:Mediator Complex / Q000235:genetics; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000151:congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex